This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008] See more...

Aliases for RNASEH2C Gene

Aliases for RNASEH2C Gene

  • Ribonuclease H2 Subunit C 2 3 4 5
  • AGS3 2 3 4
  • AYP1 2 3 4
  • Aicardi-Goutieres Syndrome 3 Protein 3 4
  • Ribonuclease HI Subunit C 3 4
  • RNase H1 Small Subunit 3 4
  • RNase H2 Subunit C 3 4
  • Aicardi-Goutieres Syndrome 3 2
  • Ribonuclease H2, Subunit C 2
  • RNASEH2C 5

External Ids for RNASEH2C Gene

Previous GeneCards Identifiers for RNASEH2C Gene

  • GC11M065241
  • GC11M065485
  • GC11M061811

Summaries for RNASEH2C Gene

Entrez Gene Summary for RNASEH2C Gene

  • This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNASEH2C Gene

RNASEH2C (Ribonuclease H2 Subunit C) is a Protein Coding gene. Diseases associated with RNASEH2C include Aicardi-Goutieres Syndrome 3 and Aicardi-Goutieres Syndrome. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis.

UniProtKB/Swiss-Prot Summary for RNASEH2C Gene

  • Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNASEH2C Gene

Genomics for RNASEH2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNASEH2C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNASEH2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNASEH2C

Top Transcription factor binding sites by QIAGEN in the RNASEH2C gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • STAT3

Genomic Locations for RNASEH2C Gene

Latest Assembly
chr11:65,714,005-65,720,818
(GRCh38/hg38)
Size:
6,814 bases
Orientation:
Minus strand

Previous Assembly
chr11:65,485,144-65,488,269
(GRCh37/hg19 by Entrez Gene)
Size:
3,126 bases
Orientation:
Minus strand

chr11:65,482,367-65,488,418
(GRCh37/hg19 by Ensembl)
Size:
6,052 bases
Orientation:
Minus strand

Genomic View for RNASEH2C Gene

Genes around RNASEH2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASEH2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASEH2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEH2C Gene

Proteins for RNASEH2C Gene

  • Protein details for RNASEH2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDP1-RNH2C_HUMAN
    Recommended name:
    Ribonuclease H2 subunit C
    Protein Accession:
    Q8TDP1
    Secondary Accessions:
    • Q9H7F5

    Protein attributes for RNASEH2C Gene

    Size:
    164 amino acids
    Molecular mass:
    17840 Da
    Quaternary structure:
    • The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.
    Miscellaneous:
    • The T6 pseudogene located upstream of SRY on chromosome Y is derived from the transcript of this gene.

    Three dimensional structures from OCA and Proteopedia for RNASEH2C Gene

neXtProt entry for RNASEH2C Gene

Post-translational modifications for RNASEH2C Gene

  • Ubiquitination at Lys143
  • Modification sites at PhosphoSitePlus

Other Protein References for RNASEH2C Gene

Antibodies for research

  • Boster Bio Antibodies for RNASEH2C

No data available for DME Specific Peptides for RNASEH2C Gene

Domains & Families for RNASEH2C Gene

Gene Families for RNASEH2C Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RNASEH2C Gene

InterPro:
Blocks:
  • Ribonuclease H1 small subunit

Suggested Antigen Peptide Sequences for RNASEH2C Gene

GenScript: Design optimal peptide antigens:
  • Ribonuclease HI subunit C (RNH2C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDP1

UniProtKB/Swiss-Prot:

RNH2C_HUMAN :
  • Belongs to the RNase H2 subunit C family.
Family:
  • Belongs to the RNase H2 subunit C family.
genes like me logo Genes that share domains with RNASEH2C: view

Function for RNASEH2C Gene

Molecular function for RNASEH2C Gene

UniProtKB/Swiss-Prot Function:
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.

Phenotypes From GWAS Catalog for RNASEH2C Gene

Gene Ontology (GO) - Molecular Function for RNASEH2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with RNASEH2C: view
genes like me logo Genes that share phenotypes with RNASEH2C: view

Human Phenotype Ontology for RNASEH2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASEH2C Gene

MGI Knock Outs for RNASEH2C:

miRNA for RNASEH2C Gene

miRTarBase miRNAs that target RNASEH2C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEH2C

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RNASEH2C Gene

Localization for RNASEH2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEH2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNASEH2C gene
Compartment Confidence
nucleus 4
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNASEH2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0032299 ribonuclease H2 complex IEA,IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2C: view

Pathways & Interactions for RNASEH2C Gene

PathCards logo

SuperPathways for RNASEH2C Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
genes like me logo Genes that share pathways with RNASEH2C: view

Pathways by source for RNASEH2C Gene

1 KEGG pathway for RNASEH2C Gene

Gene Ontology (GO) - Biological Process for RNASEH2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006401 RNA catabolic process IEA,IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2C: view

No data available for SIGNOR curated interactions for RNASEH2C Gene

Drugs & Compounds for RNASEH2C Gene

No Compound Related Data Available

Transcripts for RNASEH2C Gene

mRNA/cDNA for RNASEH2C Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNASEH2C

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH2C Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: -
SP3: - -
SP4: -
SP5: - -

Relevant External Links for RNASEH2C Gene

GeneLoc Exon Structure for
RNASEH2C

Expression for RNASEH2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNASEH2C Gene

Protein differential expression in normal tissues from HIPED for RNASEH2C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8) and Monocytes (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNASEH2C Gene



Protein tissue co-expression partners for RNASEH2C Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNASEH2C

SOURCE GeneReport for Unigene cluster for RNASEH2C Gene:

Hs.718438

mRNA Expression by UniProt/SwissProt for RNASEH2C Gene:

Q8TDP1-RNH2C_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for RNASEH2C Gene

  • Nervous system(4.6)
  • Intestine(2.7)
  • Kidney(2.3)
  • Lung(2.2)
  • Blood(2.1)
  • Muscle(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASEH2C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
  • liver
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with RNASEH2C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNASEH2C Gene

Orthologs for RNASEH2C Gene

This gene was present in the common ancestor of animals.

Orthologs for RNASEH2C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RNASEH2C 29 30
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RNASEH2C 29 30
  • 79.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNASEH2C 29 30
  • 77.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnaseh2c 29
  • 75 (n)
Mouse
(Mus musculus)
Mammalia Rnaseh2c 29 16 30
  • 73.98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RNASEH2C 30
  • 50 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RNASEH2C 30
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii RNASEH2C (1 of 2) 30
  • 39 (a)
OneToMany
RNASEH2C (2 of 2) 30
  • 39 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG30105 30
  • 25 (a)
OneToOne
Species where no ortholog for RNASEH2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RNASEH2C Gene

ENSEMBL:
Gene Tree for RNASEH2C (if available)
TreeFam:
Gene Tree for RNASEH2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNASEH2C: view image
Alliance of Genome Resources:
Additional Orthologs for RNASEH2C

Paralogs for RNASEH2C Gene

Pseudogenes.org Pseudogenes for RNASEH2C Gene

genes like me logo Genes that share paralogs with RNASEH2C: view

No data available for Paralogs for RNASEH2C Gene

Variants for RNASEH2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNASEH2C Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1006628 Uncertain Significance: Aicardi Goutieres syndrome 3 65,720,139(-) T/C
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser)
MISSENSE
1014463 Uncertain Significance: Aicardi Goutieres syndrome 3 65,720,619(-) A/C
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys)
MISSENSE
1026187 Uncertain Significance: Aicardi Goutieres syndrome 3 65,720,367(-) C/T
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met)
MISSENSE
1028926 Uncertain Significance: Aicardi Goutieres syndrome 3 65,720,605(-) T/C
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val)
MISSENSE
1028927 Uncertain Significance: Aicardi Goutieres syndrome 3 65,720,400(-) G/A
NM_032193.4(RNASEH2C):c.190C>T (p.Arg64Trp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RNASEH2C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for RNASEH2C Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNASEH2C Gene

Human Gene Mutation Database (HGMD)
RNASEH2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASEH2C
Leiden Open Variation Database (LOVD)
RNASEH2C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RNASEH2C Gene

Disorders for RNASEH2C Gene

MalaCards: The human disease database

(18) MalaCards diseases for RNASEH2C Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

RNH2C_HUMAN
  • Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329]: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. {ECO:0000269 PubMed:16845400, ECO:0000269 PubMed:17846997, ECO:0000269 PubMed:20131292}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RNASEH2C

genes like me logo Genes that share disorders with RNASEH2C: view

No data available for Genatlas for RNASEH2C Gene

Publications for RNASEH2C Gene

  1. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. (PMID: 16845400) Crow YJ … Jackson AP (Nature genetics 2006) 2 3 4 72
  2. The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects. (PMID: 21177858) Figiel M … Nowotny M (The Journal of biological chemistry 2011) 3 4
  3. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (PMID: 17846997) Rice G … Crow YJ (American journal of human genetics 2007) 3 4
  4. Aicardi-Goutières Syndrome (PMID: 20301648) Crow YJ (GeneReviews® 2005) 3 72
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RNASEH2C Gene

Sources for RNASEH2C Gene